SLC7A11

Chr 4

solute carrier family 7 member 11

Also known as: CCBR1, xCT

NCBI Gene: 23657ENSG00000151012UniProt: Q9UPY5OMIM: 607933

This gene encodes a member of a heteromeric, sodium-independent, anionic amino acid transport system that is highly specific for cysteine and glutamate. In this system, designated Xc(-), the anionic form of cysteine is transported in exchange for glutamate. This protein has been identified as the predominant mediator of Kaposi sarcoma-associated herpesvirus fusion and entry permissiveness into cells. Also, increased expression of this gene in primary gliomas (compared to normal brain tissue) was associated with increased glutamate secretion via the XCT channels, resulting in neuronal cell death. [provided by RefSeq, Sep 2011]

OMIMResearchGenerating clinical summary…
4
Active trials
2397
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.76
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.76LOEUF
pLI 0.000
Z-score 2.45
OE 0.46 (0.29–0.76)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.78Z-score
OE missense 0.87 (0.78–0.97)
242 obs / 278.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.46 (0.29–0.76)
0≤0.351.4
Missense OE?0.87 (0.78–0.97)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 11 / 23.9Missense obs/exp: 242 / 278.6Syn Z: -0.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC7A11 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients